Branching enzyme deficiency/glycogenosis storage disease type IV presenting as a severe congenital hypotonia: Muscle biopsy and autopsy findings, biochemical and molecular genetic studies
Titel:
Branching enzyme deficiency/glycogenosis storage disease type IV presenting as a severe congenital hypotonia: Muscle biopsy and autopsy findings, biochemical and molecular genetic studies
Auteur:
Taratuto, A.L. Akman, H.O. Saccoliti, M. Riudavets, M. Arakaki, N. Mesa, L. Sevlever, G. Goebel, H. DiMauro, S.